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Hunter-McAlpine craniosynostosis
rareHunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter).
- Identifiers
- MONDO:0011065 OMIM:601379Orphanet:97340
- Part of
- Syndromic craniosynostosis
- Also known as
- craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature · Hunter-McAlpine syndrome
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